PDP2 - Pyruvate dehydrogenase phosphatase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 615499
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725

Gene

PDP1 - Pyruvate dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PDP1 - Pyruvate dehydrogenase phosphatase deficiency



€ 725

PDP1 - Pyruvate dehydrogenase phosphatase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase phosphatase deficiency

This product is also part of the following panels:

  • Comprehensive preconception carrier test panel¹
  • Epilepsy panel
  • Intellectual disability panel with genome wide CNV analysis
  • Mendelian inherited disorders panel with genome wide CNV analysis
  • Mitochondrial disorders panel

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 605993
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725
Gene

PDP2 - Pyruvate dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PDP2 - Pyruvate dehydrogenase phosphatase deficiency



€ 725
Gene

PDPR - Pyruvaat dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks
Performing laboratory
Radboudumc
€ 725

PDPR - Pyruvaat dehydrogenase phosphatase deficiency



€ 725

PDPR - Pyruvaat dehydrogenase phosphatase deficiency

This test is available for the following conditions:

  • Conditions > Mitochondrial disorders > Pyruvate dehydrogenase phosphatase deficiency

Turnaround time
Complete analysis: 8 weeks / Targeted analysis: 4 weeks

Method

  • Sequence analysis of all coding exons and flanking intron-exon boundaries

OMIM: 617835
Performing laboratory: Radboudumc
Authorized material(s): EDTA blood, Isolated DNA, Buccal mucous membrane




€ 725